Hereditary thrombophilia due to a novel histidine-rich glycoprotein mutation leading to deferral of kidney transplantation: a case report.

OBJECTIVE

To report a novel pathogenic frameshift mutation in the histidine-rich glycoprotein (HRG) gene causing hereditary thrombophilia, and to discuss its clinical implications for kidney transplantation decision-making.

METHODS

A 42-year-old female with end-stage renal disease on maintenance hemodialysis presented with recurrent dialysis access thrombosis. Routine coagulation tests were normal, but decreased antithrombin and elevated D-dimer prompted genetic investigation. Whole-exome sequencing was performed to identify potential genetic etiologies.

RESULTS

Whole-exome sequencing identified a previously unreported pathogenic frameshift mutation in the HRG gene: c.694delG (p.E232fs). This mutation explained the patient's prothrombotic phenotype. Given the significantly elevated risk of renal allograft thrombosis associated with this condition, a multidisciplinary risk assessment led to deferral of the planned kidney transplantation.

CONCLUSIONS

This case highlights the critical role of early genetic testing in patients with unexplained recurrent thrombosis. Identifying a novel HRG mutation not only establishes a rare etiology of hereditary thrombophilia but also guides personalized management and high-stakes surgical decisions, such as deferral of organ transplantation to avoid graft loss.